PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs62507347
rs62507347 		0.925 0.120 12 102894860 missense variant T/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 31 1991 2014
dbSNP: rs62514950
rs62514950 		1.000 0.120 12 102852848 missense variant C/T snv 1.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 31 1991 2015
dbSNP: rs62514957
rs62514957 		1.000 0.120 12 102846900 missense variant C/T snv 7.2E-05 4.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 31 1991 2017
dbSNP: rs199475582
rs199475582 		1.000 0.120 12 102851755 missense variant C/T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 30 1991 2015
dbSNP: rs199475589
rs199475589 		1.000 0.120 12 102855169 missense variant G/C;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 30 1991 2016
dbSNP: rs62508694
rs62508694 		1.000 0.120 12 102852924 missense variant C/G;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 30 1991 2014
dbSNP: rs62516062
rs62516062 		1.000 0.120 12 102844368 missense variant C/A;T snv 1.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 30 1991 2014
dbSNP: rs62516155
rs62516155 		1.000 0.120 12 102852827 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 30 1991 2016
dbSNP: rs199475578
rs199475578 		1.000 0.120 12 102852933 missense variant G/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 29 1991 2015
dbSNP: rs62517163
rs62517163 		1.000 0.120 12 102843731 missense variant T/A snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 29 1991 2016
dbSNP: rs62517168
rs62517168 		1.000 0.120 12 102851752 missense variant T/A snv 1.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 29 1991 2015
dbSNP: rs77958223
rs77958223 		1.000 0.120 12 102855309 missense variant T/A;C snv 7.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 29 1994 2016
dbSNP: rs62516149
rs62516149 		1.000 0.120 12 102852831 missense variant T/A;C snv 3.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 28 1991 2014
dbSNP: rs62517198
rs62517198 		1.000 0.120 12 102855207 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 28 1991 2015
dbSNP: rs62642930
rs62642930 		1.000 0.120 12 102852893 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 28 1991 2015
dbSNP: rs62642940
rs62642940 		1.000 0.120 12 102846923 missense variant G/T snv 4.0E-06 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 28 1991 2015
dbSNP: rs62514902
rs62514902 		1.000 0.120 12 102894837 missense variant C/A snv 8.0E-06 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 27 1991 2014
dbSNP: rs62514953
rs62514953 		1.000 0.120 12 102852839 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 27 1991 2014
dbSNP: rs62516150
rs62516150 		1.000 0.120 12 102844389 missense variant C/A snv 8.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 27 1991 2015
dbSNP: rs62516152
rs62516152 		1.000 0.120 12 102855154 missense variant C/T snv 5.4E-04 3.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 27 1993 2014
dbSNP: rs62642928
rs62642928 		1.000 0.120 12 102912838 missense variant G/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 27 1991 2015
dbSNP: rs5030851
rs5030851 		0.925 0.160 12 102852815 missense variant G/A snv 1.0E-04 1.3E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 26 1991 2015
dbSNP: rs62508736
rs62508736 		1.000 0.120 12 102843661 missense variant G/C;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 26 1991 2014
dbSNP: rs62514958
rs62514958 		0.925 0.120 12 102846899 missense variant G/A;C snv 6.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 26 1991 2017
dbSNP: rs199475577
rs199475577 		1.000 0.120 12 102852945 missense variant T/C;G snv 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 25 1991 2015